{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401461389", "communityStandardTitle": [ "NM_001614.5(ACTG1):c.395T>A (p.Met132Lys)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.79478621A>T?assembly=hg19", "id": "chr17:g.79478621A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.81511595A>T?assembly=hg38", "id": "chr17:g.81511595A>T" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 81511595, "referenceAllele": "A", "start": 81511594 } ], "hgvs": [ "NC_000017.11:g.81511595A>T", "CM000679.2:g.81511595A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 79478621, "referenceAllele": "A", "start": 79478620 } ], "hgvs": [ "NC_000017.10:g.79478621A>T", "CM000679.1:g.79478621A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 77093216, "referenceAllele": "A", "start": 77093215 } ], "hgvs": [ "NC_000017.9:g.77093216A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 6207, "referenceAllele": "T", "start": 6206 } ], "hgvs": [ "NG_011433.1:g.6207T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001711" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 605, "referenceAllele": "T", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000570382.2:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000466346.2:p.Met132Lys", "hgvsWellDefined": "ENSP00000466346.2:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760629" }, { "coordinates": [ { "allele": "A", "end": 411, "endIntronDirection": "-", "endIntronOffset": 16, "referenceAllele": "T", "start": 411, "startIntronDirection": "-", "startIntronOffset": 17 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000571691.6:c.340-17T>A" ], "proteinEffect": { "hgvs": "ENSP00000461407.2:n.340-17T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS760663" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "T", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000571721.6:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000460660.2:p.Met132Lys", "hgvsWellDefined": "ENSP00000460660.2:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760667" }, { "coordinates": [ { "allele": "A", "end": 560, "referenceAllele": "T", "start": 559 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000572105.7:c.436T>A" ], "proteinEffect": { "hgvs": "ENSP00000462823.1:p.Cys146Ser", "hgvsWellDefined": "ENSP00000462823.1:p.Cys146Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS760672" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "T", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000573283.7:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000458435.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000458435.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760708", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000573283.7:c.395T>A" }, "RefSeq": { "hgvs": "NM_001614.5:c.395T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000458435.1:p.Met132Lys" }, "RefSeq": { "hgvs": "NP_001605.1:p.Met132Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "T", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000574671.6:n.795T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760746" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "T", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000575659.6:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000459119.2:p.Met132Lys", "hgvsWellDefined": "ENSP00000459119.2:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760763" }, { "coordinates": [ { "allele": "A", "end": 607, "referenceAllele": "T", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000575994.6:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000460464.2:p.Met132Lys", "hgvsWellDefined": "ENSP00000460464.2:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760769" }, { "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "T", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000576214.3:n.696T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS760779" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000576544.6:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000461672.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000461672.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS760788" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "T", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000615544.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000477968.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000477968.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762017" }, { "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "T", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000644774.2:c.368T>A" ], "proteinEffect": { "hgvs": "ENSP00000493648.2:p.Met123Lys", "hgvsWellDefined": "ENSP00000493648.2:p.Met123Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS767989" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000679410.1:n.519T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779041" }, { "coordinates": [ { "allele": "A", "end": 472, "referenceAllele": "T", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000679480.1:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000506201.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000506201.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS779111" }, { "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "T", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000679535.1:n.696T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779164" }, { "coordinates": [ { "allele": "A", "end": 888, "referenceAllele": "T", "start": 887 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000679778.1:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000505235.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000505235.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS779403" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "T", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000680227.1:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000506253.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000506253.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS779847" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "T", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000680727.1:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000505193.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000505193.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780342" }, { "coordinates": [ { "allele": "A", "end": 481, "referenceAllele": "T", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000681052.1:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000505060.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000505060.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS780665" }, { "coordinates": [ { "allele": "A", "end": 452, "referenceAllele": "T", "start": 451 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000681092.1:c.*199T>A" ], "proteinEffect": { "hgvs": "ENSP00000506720.1:n.*199T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780704" }, { "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "T", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000681842.1:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000506126.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000506126.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS781444" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "T", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000331925.6:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000331514.2:p.Met132Lys", "hgvsWellDefined": "ENSP00000331514.2:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS259488" }, { "coordinates": [ { "allele": "A", "end": 411, "endIntronDirection": "-", "endIntronOffset": 16, "referenceAllele": "T", "start": 411, "startIntronDirection": "-", "startIntronOffset": 17 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000570382.1:c.340-17T>A" ], "proteinEffect": { "hgvs": "ENSP00000466346.1:n.340-17T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS382072" }, { "coordinates": [ { "allele": "A", "end": 404, "referenceAllele": "T", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000571691.5:c.368T>A" ], "proteinEffect": { "hgvs": "ENSP00000461407.1:p.Met123Lys", "hgvsWellDefined": "ENSP00000461407.1:p.Met123Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS382606" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "T", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000571721.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000460660.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000460660.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS382619" }, { "coordinates": [ { "allele": "A", "end": 490, "referenceAllele": "T", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000572105.6:c.436T>A" ], "proteinEffect": { "hgvs": "ENSP00000462823.1:p.Cys146Ser", "hgvsWellDefined": "ENSP00000462823.1:p.Cys146Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS382781" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "T", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000573283.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000458435.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000458435.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS383236" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "T", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000574671.5:n.254T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS383778" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "T", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000575087.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000459124.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000459124.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS383965" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "T", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000575659.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000459119.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000459119.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS384201" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "T", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000575842.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000458162.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000458162.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS384267" }, { "coordinates": [ { "allele": "A", "end": 607, "referenceAllele": "T", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000575994.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000460464.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000460464.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS384322" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "T", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000576209.5:n.280T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384396" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "T", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000576214.2:n.593T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384398" }, { "coordinates": [ { "allele": "A", "end": 459, "referenceAllele": "T", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000576544.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000461672.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000461672.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS384519" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "T", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000576917.5:n.448T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS384648" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "T", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "ENST00000615544.4:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000477968.1:p.Met132Lys", "hgvsWellDefined": "ENSP00000477968.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS402662" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "T", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NM_001199954.1:c.395T>A" ], "proteinEffect": { "hgvs": "NP_001186883.1:p.Met132Lys", "hgvsWellDefined": "NP_001186883.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS017279" }, { "coordinates": [ { "allele": "A", "end": 534, "referenceAllele": "T", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NM_001614.3:c.395T>A" ], "proteinEffect": { "hgvs": "NP_001605.1:p.Met132Lys", "hgvsWellDefined": "NP_001605.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS026955" }, { "coordinates": [ { "allele": "A", "end": 534, "referenceAllele": "T", "start": 533 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NR_037688.1:n.534T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS050096" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "T", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NM_001199954.2:c.395T>A" ], "proteinEffect": { "hgvs": "NP_001186883.1:p.Met132Lys", "hgvsWellDefined": "NP_001186883.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS511842" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "T", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NM_001614.4:c.395T>A" ], "proteinEffect": { "hgvs": "NP_001605.1:p.Met132Lys", "hgvsWellDefined": "NP_001605.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS524889" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "T", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NR_037688.2:n.467T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527246" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "T", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NM_001614.5:c.395T>A" ], "proteinEffect": { "hgvs": "NP_001605.1:p.Met132Lys", "hgvsWellDefined": "NP_001605.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS665062", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000573283.7:c.395T>A" }, "RefSeq": { "hgvs": "NM_001614.5:c.395T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000458435.1:p.Met132Lys" }, "RefSeq": { "hgvs": "NP_001605.1:p.Met132Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "T", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NR_037688.3:n.467T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS702269" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "T", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN000144", "geneNCBI_id": 71, "geneSymbol": "ACTG1", "hgvs": [ "NM_001199954.3:c.395T>A" ], "proteinEffect": { "hgvs": "NP_001186883.1:p.Met132Lys", "hgvsWellDefined": "NP_001186883.1:p.Met132Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS714045" } ], "type": "nucleotide" }